In genetics, rs16891982, also known as F374L, is the name for a single nucleotide polymorphism found in the SLC45A2 gene. The SNP consists of two alleles: C (cytosine) and G (guanine).[2] It is associated with skin tone and hair/eye color. It is a type of missense mutation.[3]
| SNP: rs16891982 | |
|---|---|
| Name(s) | F374L, c.1122C>G |
| Gene | SLC45A2 |
| Chromosome | 5 |
| Region | Exon 5[1] |
| External databases | |
| Ensembl | Human SNPView |
| dbSNP | rs16891982 |
| HapMap | rs16891982 |
| SNPedia | rs16891982 |
C allele homozygosity is associated with black hair in people of European descent, although those with this genotype are usually of non-European descent.[2]
C/G allele heterozygosity is associated with black hair in people of European descent[2]
G allele homozygosity is associated with light skin, hair, and eye color (European ancestry),[4][5] those with this genotype also have a slightly higher susceptibility to melanoma.[3]
References
edit- ^ López, Saioa; García, Óscar; Yurrebaso, Iñaki; Flores, Carlos; Acosta-Herrera, Marialbert; Chen, Hua; Gardeazabal, Jesús; Careaga, Jesús María; Boyano, María Dolores; Sánchez, Ana; Ratón-Nieto, Juan Antonio; Sevilla, Arrate; Smith-Zubiaga, Isabel; De Galdeano, Alicia García; Martinez-Cadenas, Conrado; Izagirre, Neskuts; de la Rúa, Concepción; Alonso, Santos (5 August 2014). "The Interplay between Natural Selection and Susceptibility to Melanoma on Allele 374F of SLC45A2 Gene in a South European Population". PLOS ONE. 9 (8): e104367. Bibcode:2014PLoSO...9j4367L. doi:10.1371/journal.pone.0104367. ISSN 1932-6203. PMC 4122405. PMID 25093503.
- ^ a b c "rs16891982 - SNPedia". www.snpedia.com. Retrieved 2022-10-01.
- ^ a b "rs16891982 RefSNP Report - dbSNP - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-10-01.
- ^ Reis, Larissa B.; Bakos, Renato M.; Vianna, Fernanda S. L.; Macedo, Gabriel S.; Jacovas, Vanessa C.; Ribeiro-dos-Santos, André M.; Santos, Sidney; Bakos, Lúcio; Ashton-Prolla, Patricia (2020-11-09). "Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil". BMC Cancer. 20 (1): 1069. doi:10.1186/s12885-020-07485-x. ISSN 1471-2407. PMC 7650158. PMID 33167923.
- ^ Siewierska-Górska, A.; Sitek, A.; Żądzińska, E.; Bartosz, G.; Strapagiel, D. (2017-03-01). "Association of five SNPs with human hair colour in the Polish population" (PDF). HOMO. 68 (2): 134–144. doi:10.1016/j.jchb.2017.02.002. ISSN 0018-442X. PMID 28242083.
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